Naslov
A recent evolutionary change affects a regulatory element in the human FOXP2 gene

Autori
Maričić, T. ; Günther, V. ; Georgiev, O. ; Gehre, S. ; Ćurlin, Marija ; Schreiweis, C. ; Naumann, R. ; Burbano, H.A. ; Meyer, M. ; Lalueza-Fox, C. ; de la Rasilla, M. ; Rosas, A. ; Gajović, Srećko ; Kelso, J. ; Enard, W. ; Schaffner, W. ; Pääbo, S.

Izvornik
Molecular biology and evolution (0737-4038) 30 (2012), 4; 844-852

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
FOXP2; Neandertals; ancient DNA; gene regulation; speech and language

Sažetak
The FOXP2 gene is required for normal development of speech and language. By isolating and sequencing FOXP2 genomic DNA fragments from a 49, 000-year-old Iberian Neandertal and 50 present-day humans, we have identified substitutions in the gene shared by all or nearly all present-day humans but absent or polymorphic in Neandertals. One such substitution is localized in intron 8 and affects a binding site for the transcription factor POU3F2, which is highly conserved among vertebrates. We find that the derived allele of this site is less efficient than the ancestral allele in activating transcription from a reporter construct. The derived allele also binds less POU3F2 dimers than POU3F2 monomers compared with the ancestral allele. Because the substitution in the POU3F2 binding site is likely to alter the regulation of FOXP2 expression, and because it is localized in a region of the gene associated with a previously described signal of positive selection, it is a plausible candidate for having caused a recent selective sweep in the FOXP2 gene.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA